September 13, 2019
Making the Most of Your Doctor’s Visit When You Have Fabry Disease
Health Insights
Fabry disease is a rare genetic disorder, which can make doctor visits much more complicated. Here are some tips ... Read more
September 9, 2019
Genetics of Fabry Disease
Health Insights
Like all genetic diseases, Fabry disease often poses a major concern for parents and caregivers of an affected child. ... Read more
September 4, 2019September 4, 2019
New GLA Mutation Leading to Low Enzyme Activity and Kidney Disease Found in Chinese Patient
News
A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to ... Read more
September 2, 2019August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
News
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as ... Read more
August 29, 2019
FAQs in Fabry Disease
Health Insights
Patients and caregivers of genetic disorders such as Fabry disease often have more questions than answers due to the ... Read more
August 28, 2019
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
News
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert ... Read more
August 28, 2019August 28, 2019
Enzyme Testing for Fabry Disease May Be More Cost-Effective Than Genetic Tests, Study Says
News
Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, ... Read more
August 21, 2019August 22, 2019
Amicus CEO John Crowley Outlines Progress in Fabry, Pompe, Batten Therapies
News
Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 ... Read more
August 20, 2019August 16, 2019
The Start of the Journey
Chronically Caring – a Column by Morgan Yontz, Columns
Welcome to Morgan Yontz’s “Chronically Caring,” a new Fabry Disease News column. The first step I first learned of Fabry ... Read more
August 19, 2019August 19, 2019
Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
News
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you ... Read more
August 14, 2019August 14, 2019
Dried Blood Drops May Help Screen At-risk Patients Early for Fabry Disease, Study Suggests
News
Analysis of dry blood drops may help diagnose Fabry disease and begin early treatment in patients who are experiencing ... Read more
August 7, 2019August 7, 2019
Galafold Approved to Treat Fabry Teens and Adults in Argentina, Amicus Announces
News
Adolescents and adults with Fabry disease who live in Argentina can now be treated with Amicus Therapeutics’ oral precision ... Read more

September 13, 2019

Making the Most of Your Doctor’s Visit When You Have Fabry Disease

Health Insights

Fabry disease is a rare genetic disorder, which can make doctor visits much more complicated. Here are some tips to ensure that your doctor’s appointment is as fruitful as ... Read more

September 9, 2019

Genetics of Fabry Disease

Health Insights

Like all genetic diseases, Fabry disease often poses a major concern for parents and caregivers of an affected child. Understanding the genetics of the disease can help in further ... Read more

September 4, 2019September 4, 2019

New GLA Mutation Leading to Low Enzyme Activity and Kidney Disease Found in Chinese Patient

News

A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney ... Read more

September 2, 2019August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 29, 2019

FAQs in Fabry Disease

Health Insights

Patients and caregivers of genetic disorders such as Fabry disease often have more questions than answers due to the paucity of easily accessible information. This article answers some frequently ... Read more

August 28, 2019

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

News

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such ... Read more

August 28, 2019August 28, 2019

Enzyme Testing for Fabry Disease May Be More Cost-Effective Than Genetic Tests, Study Says

News

Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, a study suggests. Titled “Cost Efficacy of α-Galactosidase A Enzyme ... Read more

August 21, 2019August 22, 2019

Amicus CEO John Crowley Outlines Progress in Fabry, Pompe, Batten Therapies

News

Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 years since the release of “Extraordinary Measures” — a tearjerker starring ... Read more

August 20, 2019August 16, 2019

The Start of the Journey

Chronically Caring – a Column by Morgan Yontz, Columns

Welcome to Morgan Yontz’s “Chronically Caring,” a new Fabry Disease News column. The first step I first learned of Fabry disease when my aunt tested positive after years of suffering ... Read more

August 19, 2019August 19, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

News

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more